Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications

Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications

Summary: Pathogenic variants in the DES gene clinically manifest as progressive skeletal muscle weakness, cardiomyopathy with associated severe arrhythmias, and respiratory insufficiency, and are collectively known as desminopathies. While most DES pathogenic variants act via a dominant mechanism, r...

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Bibliographic Details
Main Authors: Janelle Geist Hauserman, Chamindra G. Laverty, Sandra Donkervoort, Ying Hu, Sarah Silverstein, Sarah B. Neuhaus, Dimah Saade, Gabrielle Vaughn, Denise Malicki, Rupleen Kaur, Yuesheng Li, Yan Luo, Poching Liu, Patrick Burr, A. Reghan Foley, Payam Mohassel, Carsten G. Bönnemann
Format: Article
Language:English
Published: Elsevier 2024-04-01
Series:HGG Advances
Subjects:
desmin
skeletal myopathy
cardiomyopathy
phosphorodiamidate morpholino oligomer
fibroblast transdifferentiation
RNAseq
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247724000137

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http://www.sciencedirect.com/science/article/pii/S2666247724000137

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